[CIS-PAGID] TAP1 deficiency

[Church, Joseph]

A human platelet-derived growth factor (Regranix) is available by prescription for diabetic ulcers.  It may work in this case.

 

Joe Church

Childdren's Hospital Los Angeles

 

________________________________

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Hare, Nathaniel D
Sent: Tuesday, April 26, 2011 5:05 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] TAP1 deficiency

 

See if this would help too:

Hatab AZ, McDanel D, Ballas ZK. Perilesional GM-CSF therapy of a chronic leg ulcer in a patient with common variable immunodeficiency. <http://www.ncbi.nlm.nih.gov/pubmed/16083806>  J Allergy Clin Immunol. 2005 Aug;116(2):460-2. 

 

Nathan

 

Nathaniel D. Hare MD

Allergy & Immunology

CMC - Dartmouth Hitchcock Keene

Keene, NH  03431

 

ph  (603) 354-5496

fax (603) 354-5498

________________________________

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Sullivan, Kathleen
Sent: Tuesday, April 26, 2011 6:56 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS-PAGID] TAP1 deficiency

 

Dick Stiehm gave me a recipe for GM-CSF to be used on gauze pads for ulcers.  For my one kid who had really terrible ulcers- it worked well.

 

Kate

On Apr 25, 2011, at 4:29 PM, Dewton Vasconcelos wrote:

 

We are needing help for a case that came to our outpatient unit diagnosed as TAP-1 deficiency.

The patient, a 25-year-old woman, born to consanguineous parents, diagnosed as presenting a homozygous TAP-1 deficiency (TAP1 RT-PCR led to the identification of a G-to-A mutation at nucleotide 2239). 

Personal record review revealed recurrent episodes of bacterial pneumonia, which had begun when the patient was 6 months old. She had 1 or 2 episodes of bacterial pneumonia each year. Chest radiography performed when she was 6 years old showed bronchiectasis. At age 12 she developed multiple leg skin ulcers, which persisted for ~2 years and resolved completely without specific treatment. After a brief period of quiescence, the skin lesions returned and became chronic, with recurrent periods of exacerbation, and rarely evolving to complete healing. At age 14 she was diagnosed as having WG based on clinical features (lung disease, sinusitis, and skin lesions), a skin ulcer biopsy showing the presence of granulomas, and the cANCA positivity. Treatment with high-dose glucocorticoids and intravenous monthly pulse cyclophosphamide was initiated. One year later, while still receiving immunosuppressive therapy, she was hospitalized for severe pansinusitis necessitating intravenous antibiotics.

For 6 years the patient received continuous treatment with a combination of glucocorticoids and other immunosuppressive medications. Over time, she received treatment with daily oral cyclophosphamide, methotrexate, azathioprine, and infliximab, without obvious improvement in her symptoms. The skin lesions continued to exacerbate periodically, with no response to high-dose glucocorticoids or other therapy. 

Flow cytometric studies of PBMCs from the patient revealed normal percentages of CD19+ B cells, CD3-,CD56+ natural killer (NK) cells, and CD3+ T cells. However, CD8+ T cells represented only 6% of all T lymphocytes (26% in a normal donor);Although several patients with TAP deficiency have been shown to have high numbers of TCR gamma/delta T cells, this T cell subset was not dramatically expanded in our patient (4.8% of all T lymphocytes). Regarding NK cells, we observed a relatively high percentage of the CD56bright subtype in our patient (16.5% of NK cells [<10% in normal donors]).

We have a question about what could be done to improve the severe ulcers in the legs of the patient, besides continuous antibiotics and specific dressings. 

We would be really grateful to any suggestion which would help alleviate the suffering of the patient.

Best regards,

Lais Pinto de Almeida 

Dewton Vasconcelos

 

-- 
Dewton de Moraes Vasconcelos, MD, PhD 
University of São Paulo School of Medicine Department of Dermatology 
Lab. of Medical Investigation in Dermatology and Immunodeficiencies - LIM56 
Dermatological Manifestations of Primary Immunodeficiencies Outpatient Unit ADEE-3003

 

Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697

(f) 267-426-0363

 



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